Links from MedGen
Items: 8
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- ChrX:38525541
- GRCh38:
- ChrX:38666287
| TSPAN7 | G83A | Intellectual disability, X-linked 58 | Uncertain significance
(Feb 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:38480090-38634614
| TSPAN7 | | Intellectual disability, X-linked 58 | not provided | no assertion provided |
| - GRCh37:
- ChrX:38530646
- GRCh38:
- ChrX:38671392
| TSPAN7 | L97fs | Intellectual disability, X-linked 58 | Pathogenic
(May 13, 2021) | no assertion criteria provided |
| - GRCh37:
- ChrX:38525530
- GRCh38:
- ChrX:38666276
| TSPAN7 | | Inborn genetic diseases, Intellectual disability, X-linked 58, not provided
| Benign/Likely benign
(Jan 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:38420766-38420768
- GRCh38:
- ChrX:38561513-38561515
| TSPAN7 | | not specified, Intellectual disability, X-linked 58 | Benign
(Sep 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:38535087-38535088
- GRCh38:
- ChrX:38675833-38675834
| TSPAN7 | V191fs | Intellectual disability, X-linked 58 | Pathogenic
(Jun 1, 2002) | no assertion criteria provided |
| - GRCh37:
- ChrX:38535032
- GRCh38:
- ChrX:38675778
| TSPAN7 | P172H | History of neurodevelopmental disorder, not provided, Intellectual disability, X-linked 58
| Conflicting interpretations of pathogenicity
(May 28, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:38540512
- GRCh38:
- ChrX:38681258
| TSPAN7 | G218* | Intellectual disability, X-linked 58 | Pathogenic
(Feb 1, 2000) | no assertion criteria provided |